As a geneticist, I see various conditions and patients of all ages. Genetic conditions are common, although some are individually rare. I'm interested in discovering the cause of rare diseases, including congenital disabilities or anomalies that affect how one grows and develops. The idea is that knowledge about the cause of genetic conditions will one day lead to treatments.
My work in the clinic allows me to evaluate and treat patients. After clinic, I often think about the patients and families I've seen and try to do something more, looking for additional resources, trying to obtain research testing, or involving someone studying the condition who can view my patients from a different perspective.
I became interested in genetics after attending a division seminar for the first time. The talk featured the discovery of a new gene and a novel mechanism for causing disease. I found it incredibly interesting but never dreamed of working in medical genetics as a doctor. However, I was working in an institute that focused on genetics research. One day, while looking for jobs, I saw a position advertised for clinical training in medical genetics. "That's it!" I remember thinking to myself. "That's what I want to do.” I was fortunate enough to get that job and start my career in a growing field of medical care that many find uniquely rewarding.
I'm co-editor of the American Journal of Medical Genetics, a journal focused on medical genetics. I'm also a past Chair of the American Board of Medical Genetics and Genomics.
When I’m not working, I like to be outdoors. Growing up in Australia taught me to love nature.
MBBS: University of Adelaide, South Australia, 1987.
PhD: Flinders University, South Australia, 1995.
Registrar and Senior Registrar: Churchill Hospital, Oxford, United Kingdom and St. Mary's Hospital, Manchester, United Kingdom.
Residency: National Human Genome Research Institute, National Institutes of Health.
Medical genetics; dysmorphology
Developmental eye defects; genomics; multiple congenital anomaly syndromes
Cincinnati Children's strives to accept a wide variety of health plans. Please contact your health insurance carrier to verify coverage for your specific benefit plan.
Information-seeking preferences in diverse patients receiving a genetic testing result in the Clinical Sequencing Evidence-Generating Research (CSER) study. Genetics in Medicine. 2023; 25:100899.
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum. Genetics in Medicine. 2023; 25:100863.
Parent-Reported Clinical Utility of Pediatric Genomic Sequencing. Pediatrics. 2023; 152:e2022060318.
Pregnancy Outcomes in Patients Exposed to OnabotulinumtoxinA Treatment: A Cumulative 29-Year Safety Update. Neurology. 2023; 101:e103-e113.
Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome. Frontiers in Genetics. 2023; 14:1116919.
Utility of genetic work-up for 46, XY patients with severe hypospadias. Journal of Pediatric Urology. 2023; 19:261-272.
POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies. The American Journal of Human Genetics. 2023; 110:809-825.
Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals. The American Journal of Human Genetics. 2023; 110:551-564.
Insights into the perinatal phenotype of Kabuki syndrome in infants identified by genome-wide sequencing. American Journal of Medical Genetics, Part A. 2023; 191:930-940.
TRAPPC9-related neurodevelopmental disorder: Report of a homozygous deletion in TRAPPC9 due to paternal uniparental isodisomy. American Journal of Medical Genetics, Part A. 2023; 191:1077-1082.